PCDHAC2

PCDHAC2
Identifiers
Aliases	PCDHAC2, PCDH-ALPHA-C2, protocadherin alpha subfamily C, 2
External IDs	OMIM: 606321; MGI: 1891443; HomoloGene: 49562; GeneCards: PCDHAC2; OMA:PCDHAC2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q31.3 Start 140,966,470 bp End 141,012,347 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 B3 Start 37,276,556 bp End 37,320,710 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 9 prefrontal cortex cerebellar hemisphere right hemisphere of cerebellum anterior cingulate cortex islet of Langerhans right frontal lobe gonad hypothalamus testicle Top expressed in primary visual cortex hippocampus proper Cortex of frontal lobe superior frontal gyrus dentate gyrus of hippocampal formation granule cell cerebellum cerebellar cortex genital tubercle striatum of neuraxis hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56134 353237 Ensembl ENSG00000243232 ENSMUSG00000102697 UniProt Q9Y5I4 Q91Y09 RefSeq (mRNA) NM_031883 NM_018899 NM_001003672 RefSeq (protein) NP_061722 NP_114089 NP_001003672 Location (UCSC) Chr 5: 140.97 – 141.01 Mb Chr 18: 37.28 – 37.32 Mb PubMed search
Wikidata
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Protocadherin alpha-C2 is a protein that in humans is encoded by the PCDHAC2 gene.

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.

Further reading

• Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
• Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169 (inactive 2021-01-14). PMID 10817752.{{cite journal}}: CS1 maint: DOI inactive as of January 2021 (link)
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. S2CID 21903526.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA sequence analysis of mouse and human protocadherin gene clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
• Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
• Sugino H, Hamada S, Yasuda R, et al. (2000). "Genomic organization of the family of CNR cadherin genes in mice and humans". Genomics. 63 (1): 75–87. doi:10.1006/geno.1999.6066. PMID 10662547.